Canonical Allele Identifier: PA2830145631
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 425259
ClinVar RCV Id: RCV000488365 RCV000821801
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476505.3:p.Glu1007Gln
CA2188967
NM_057164.5:c.3019G>C